Table 3

Gender, age and inheritance status by carrier group and ascertainment

CNV	Carrier group	No.	Sex ratio			Mean age, years (SD)	De novo frequency, no. (95% CI)
CNV	Carrier group	No.	M	F	M/F ratio (95% CI), P value	Mean age, years (SD)	De novo frequency, no. (95% CI)
Deletion	All probands	326	200	126	(0.56 to 0.67), 4.9e−05	8.7 (9.1)	5.9%, 8/136 (2.6 to 11.3)
	Probands +NDD	266	179	87	(0.61 to 0.73), 1.8e−08	9.3 (7.3)	7.4%, 8/108 (3.3 to 14.1)
	Probands −NDD	60	21	39	(0.24 to 0.48), ns	8.9 (14.5)	0/28
	Relative carriers	65	32	33	1.0, ns	32.0 (15.9)	0/15
Duplication	All probands	176*	110	65	(0.55 to 0.70), 8.3e−04	7.8 (9.0)	2.2%, 1/46 (0.1 to 11.5)
	Probands +NDD	139*	91	47	(0.57 to 0.74), 2.3e−04	8.7 (7.9)	2.4%, 1/42 (0.1 to 12.6)
	Probands −NDD	37	19	18	1.0, ns	9.0 (12.6)	0/4
	Relative carriers	38	19	19	1.0, ns	32.0 (16.2)	0/8

*The sex of one duplication proband is unknown.
CI, confidence interval; F, female; M, male; −NDD, probands not ascertained for NDD; +NDD, probands ascertained for neurodevelopmental disorder; SD, standard deviation; ns, not significant.